ArticleEuropean journal of neurology2024
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.
- Pooled it
- Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.European journal of neurology · 2024Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
background and purposeCharcot-Marie-Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported.
methodCase report.
resultsTwo genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin). Both individuals had upper limb motor NCVs above 38 m/s, with values ranging from 41.9 to 45 m/s in the median nerve and from 42 to 42.3 m/s in the ulnar nerve. They presented with a very mild phenotype, with CMT Neuropathy Score version 2 (CMTNSv2) of 6 and 5, respectively. In contrast, affected family members within both kinships exhibited a classical phenotype with more severe disease manifestation (CMTNSv2 ranging from 12 to 20) and motor NCVs below 30 m/s.
conclusionThese cases, although very rare, highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities.
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